|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Examining the cancer predisposition syndrome Fanconi anemia in depth revealed that mutant FANCA proteins engaged predominantly by HSP70 had severely compromised function.
|
28215707 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Integrative field scale phenotyping for investigating metabolic components of water stress within a vineyard.
|
29093742 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
In-silico analysis showed that the predicted gene targets are ATRIP, ATR, WDR48, RAD51C and FANCA genes which are involved in the Fanconi Anemia/BRCA pathway.
|
28544907 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.
|
26799702 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
In cells expressing non-phosphorylatable FAAP20 mutant, the turnover of its binding partner, FANCA, is deregulated in the chromatin during DNA ICL repair, and the FA pathway is compromised.
|
27232758 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.
|
26799702 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
|
27041517 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
|
27041517 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
|
26740942 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To address this issue, we established induced pluripotent stem cells (iPSCs) from fibroblasts of six patients with FA and FANCA mutations.
|
25762002 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FANCA is the most commonly mutated gene in FA and is essential for resolving DNA interstrand cross-links during replication.
|
26201965 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
FANCA safeguards interphase and mitosis during hematopoiesis in vivo.
|
26366677 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These patients belonged to complementation groups FA-A (n = 3), FA-G (n = 1) and FA-I (n = 1).
|
24989076 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival.
|
25243787 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.
|
25583207 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Among these, mutations in FANCA are the most frequent among FA patients worldwide which account for 60- 65%.
|
25953249 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
|
26136524 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG.
|
25703136 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
20-kDa FANCA-associated protein (FAAP20) is a recently identified protein that associates with the Fanconi anemia (FA) core complex component, FANCA.
|
25917546 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.
|
25953249 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
|
24584348 |
2014 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Analyses of gene-edited FA-iPSCs confirmed the specific integration of FANCA in the AAVS1 locus in all tested clones.
|
24859981 |
2014 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
The molecular analysis of the FANCA gene using the FA MLPA kit P031-A2/P032 FANCA, showed homozygous deletion of exon 3 in all 3 patients.
|
24356203 |
2014 |